ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1411T>G (p.Leu471Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002389534 SCV002701777 uncertain significance Primary ciliary dyskinesia 2015-08-11 criteria provided, single submitter clinical testing The p.L471V variant (also known as c.1411T>G), located in coding exon 7 of the DNAH11 gene, results from a T to G substitution at nucleotide position 1411. The leucine at codon 471 is replaced by valine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 5862 samples (11724 alleles) with coverage at this position. This amino acid position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002389534 SCV002929522 benign Primary ciliary dyskinesia 2023-12-29 criteria provided, single submitter clinical testing

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